Pasquali-Ronchetti I - Search Results

1

Novel deletions causing pseudoxanthoma elasticum underscore the genomic instability of the ABCC6 region.

Costrop LM, Vanakker OO, Van Laer L, Le Saux O, Martin L, Chassaing N, Guerra D, Pasquali-Ronchetti I, Coucke PJ, De Paepe A. Costrop LM, et al. Among authors: pasquali ronchetti i. J Hum Genet. 2010 Feb;55(2):112-7. doi: 10.1038/jhg.2009.132. Epub 2010 Jan 15. J Hum Genet. 2010. PMID: 20075945 Free article.

2

Pseudoxanthoma elasticum-like phenotype with cutis laxa and multiple coagulation factor deficiency represents a separate genetic entity.

Vanakker OM, Martin L, Gheduzzi D, Leroy BP, Loeys BL, Guerci VI, Matthys D, Terry SF, Coucke PJ, Pasquali-Ronchetti I, De Paepe A. Vanakker OM, et al. Among authors: pasquali ronchetti i. J Invest Dermatol. 2007 Mar;127(3):581-7. doi: 10.1038/sj.jid.5700610. Epub 2006 Nov 16. J Invest Dermatol. 2007. PMID: 17110937 Free article.

3

Low serum vitamin K in PXE results in defective carboxylation of mineralization inhibitors similar to the GGCX mutations in the PXE-like syndrome.

Vanakker OM, Martin L, Schurgers LJ, Quaglino D, Costrop L, Vermeer C, Pasquali-Ronchetti I, Coucke PJ, De Paepe A. Vanakker OM, et al. Among authors: pasquali ronchetti i. Lab Invest. 2010 Jun;90(6):895-905. doi: 10.1038/labinvest.2010.68. Epub 2010 Apr 5. Lab Invest. 2010. PMID: 20368697 Free article.

4

Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.

Le Saux O, Urban Z, Tschuch C, Csiszar K, Bacchelli B, Quaglino D, Pasquali-Ronchetti I, Pope FM, Richards A, Terry S, Bercovitch L, de Paepe A, Boyd CD. Le Saux O, et al. Nat Genet. 2000 Jun;25(2):223-7. doi: 10.1038/76102. Nat Genet. 2000. PMID: 10835642

5

A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.

Le Saux O, Beck K, Sachsinger C, Silvestri C, Treiber C, Göring HH, Johnson EW, De Paepe A, Pope FM, Pasquali-Ronchetti I, Bercovitch L, Marais AS, Viljoen DL, Terry SF, Boyd CD. Le Saux O, et al. Am J Hum Genet. 2001 Oct;69(4):749-64. doi: 10.1086/323704. Epub 2001 Aug 31. Am J Hum Genet. 2001. PMID: 11536079 Free PMC article.

6

Acquired Pseudoxanthoma elasticum-like syndrome in beta-thalassaemia patients.

Hamlin N, Beck K, Bacchelli B, Cianciulli P, Pasquali-Ronchetti I, Le Saux O. Hamlin N, et al. Br J Haematol. 2003 Sep;122(5):852-4. doi: 10.1046/j.1365-2141.2003.04484.x. Br J Haematol. 2003. PMID: 12930400 Free article.

7

Parameters of oxidative stress are present in the circulation of PXE patients.

Garcia-Fernandez MI, Gheduzzi D, Boraldi F, Paolinelli CD, Sanchez P, Valdivielso P, Morilla MJ, Quaglino D, Guerra D, Casolari S, Bercovitch L, Pasquali-Ronchetti I. Garcia-Fernandez MI, et al. Among authors: pasquali ronchetti i. Biochim Biophys Acta. 2008 Jul-Aug;1782(7-8):474-81. doi: 10.1016/j.bbadis.2008.05.001. Epub 2008 May 10. Biochim Biophys Acta. 2008. PMID: 18513494 Free article.

8

Pseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16.

Le Saux O, Urban Z, Göring HH, Csiszar K, Pope FM, Richards A, Pasquali-Ronchetti I, Terry S, Bercovitch L, Lebwohl MG, Breuning M, van den Berg P, Kornet L, Doggett N, Ott J, de Jong PT, Bergen AA, Boyd CD. Le Saux O, et al. Genomics. 1999 Nov 15;62(1):1-10. doi: 10.1006/geno.1999.5925. Genomics. 1999. PMID: 10585762

9

Heparan sulphate interacts with tropoelastin, with some tropoelastin peptides and is present in human dermis elastic fibers.

Gheduzzi D, Guerra D, Bochicchio B, Pepe A, Tamburro AM, Quaglino D, Mithieux S, Weiss AS, Pasquali Ronchetti I. Gheduzzi D, et al. Among authors: pasquali ronchetti i. Matrix Biol. 2005 Feb;24(1):15-25. doi: 10.1016/j.matbio.2004.12.001. Epub 2005 Jan 16. Matrix Biol. 2005. PMID: 15748998

10

Proteoglycan alterations in skin fibroblast cultures from patients affected with pseudoxanthoma elasticum.

Passi A, Albertini R, Baccarani Contri M, de Luca G, de Paepe A, Pallavicini G, Pasquali Ronchetti I, Tiozzo R. Passi A, et al. Cell Biochem Funct. 1996 Jun;14(2):111-20. doi: 10.1002/cbf.653. Cell Biochem Funct. 1996. PMID: 8640951

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